Practical challenges in integrating genomic data into the electronic health record

Abel N. Kho*, Luke V. Rasmussen, John J. Connolly, Peggy L. Peissig, Justin Starren, Hakon Hakonarson, M. Geoffrey Hayes

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

63 Scopus citations


Genetic testing has had limited impact on routine clinical care. Widespread adoption of electronic health records presents a promising means of disseminating genetic testing into diverse care settings. Practical challenges to integration of genomic data into electronic health records include size and complexity of genetic test results, inadequate use of standards for clinical and genetic data, and limitations in electronic health record capacity to store and analyze genetic data. Related challenges include uncertainty in the interpretation of regulatory requirements for return of results, and privacy concerns specific to genetic testing. Successful integration of genomic data may require significant redesign of existing electronic health record systems.

Original languageEnglish (US)
Pages (from-to)772-778
Number of pages7
JournalGenetics in Medicine
Issue number10
StatePublished - Oct 2013


  • clinical decision support systems
  • electronic health records
  • genetic testing
  • genomic medicine

ASJC Scopus subject areas

  • Genetics(clinical)


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